Varaico: Literature-Extracted Genetic Variants

PROC

463 papers

RefSeq Summary

This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease...

Pfam Domains

Glaaa 47–87UCSCVitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

FXa_inhibitionaa 140–175UCSCCoagulation Factor Xa inhibitory site

Trypsinaa 212–445UCSCTrypsin

Gene Aliases

HGNC Name

protein C, inactivator of coagulation factors Va and VIIIa

HGNC Previous Name

protein C (inactivator of coagulation factors Va and VIIIa)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000312.4

p.R185G

c.553A>G

Surrounding Variants

1 paper

NM_000312.4

p.R185M

c.554G>T

1 paper

NM_000312.4

p.P186delFs

c.558delC

1 paper

NM_000312.4

p.P186H

c.557C>A

2 papers

NM_000312.4

p.C183R

c.547T>C

1 paper

NM_000312.4

p.P182R

c.545C>G

1 paper

NM_000312.4

p.P182L

c.545C>T

1 paper

NM_000312.4

p.P182fs

c.544_545fs

1 paper

NM_000312.4

p.P182A

c.544C>G

3 papers

NM_000312.4

p.F181L

c.543C>A

3 papers

NM_000312.4

p.F181L

c.543C>G

1 paper

NM_000312.4

p.F181_P186delFs

c.543_556del14

48 papers

NM_000312.4

p.R189W

c.565C>T